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Transcript
Name of Disorder: Multiple Sclerosis
Essay Title: Understanding Multiple Sclerosis, symptoms, diagnosis and treatment
Author: Dr Lucy Vivash, MSci, PhD (medicine)
Institution: Melbourne Brain Centre, Royal Melbourne Hospital
Date: 13th June 2014
Multiple sclerosis (MS) is a common neurological disease which affects
approximately 23,000 Australians, and 2-2.5 million people worldwide. The
geographical distribution of MS is variable, being more common in regions that are
farther from the equator. MS is typically diagnosed aged 20-50 years, and is also
known to affect twice as many women as men, however, the reason for this is
unclear.
MS is considered an autoimmune disease, meaning the immune system, which
normally protects the body from infection causing agents including viruses and
bacteria, mistakenly attacks the body’s own cells and tissues. Specifically in MS, the
immune cells attack myelin, the insulating cells that surround the nerves in the brain
and spine. This attack on myelin slows the transmission of messages from the brain
to the body, resulting in the symptoms observed in patients with MS.
Symptoms
The symptoms of MS vary greatly between patients. The most common symptoms
are changes to sensation (tingling, pins and needles, numbness), muscle weakness
and spasms, difficulty in movement, coordination and balance, speech difficulties,
vision problems (blurring and double vision), tiredness, pain and urinary
incontinence.
In the early stages of the disease symptoms are mild. As the disease progresses
patients will exhibit a greater number and severity of symptoms. There are currently
four/five subtypes of MS, which have differing manifestations. These are:
Relapsing-remitting MS – Symptoms are present for a period of time (a relapse)
which is followed by a (partial) resolution of symptoms (the remission period). As the
disease progresses period of relapse increase in duration and severity and periods
of remission occur less frequently.
Secondary progressive MS – Relapsing-remitting MS often evolves into secondary
progressive MS (approximately 65% of cases). When affected by secondary
progressive MS, patients experience symptoms constantly (with a degree of
variability of severity still present in some patients).
Primary progressive MS – Patients present with symptoms which slowly worsen
without any remission periods. Some patients experience a plateauing of their
symptoms, whilst in other patients symptoms and disability will continuously evolve
over a number of months and years. This affects approximately 10% of patients.
Relapsing progressive MS – As with primary progressive MS, symptoms slowly
worsen, however in this case there may be one or more relapses that provide some
relief to the patients.
Diagnosis
Diagnosis of MS is based on a patient’s medical history, neurological examination
and an MRI of the brain and spinal cord. The McDonald criteria combine clinical
presentation and findings from the MRI to diagnose MS, and typically MS is
diagnosed after a patient has had one or two relapses, and has an identifiable lesion
on MRI.
The MRI used for diagnosing MS involves the injection of a contrast agent called
gadolinium. The gadolinium enters the brain (and spinal cord) and lights up areas of
damage to the myelin. These areas are known as lesions. Patients must have two or
more lesions on MRI for a diagnosis of MS. In patients with relapsing-remitting MS,
lesions bigger and brighter during a period of relapse, and may not be present during
a period of remission. Patients who do not meet all the criteria for a diagnosis of MS
may be diagnosed with clinically isolated syndrome (CIS). CIS typically evolves into
MS in a large proportion of patients.
Treatment
Currently there is no cure for MS. There are two types of treatments that are used in
the treatment of MS, disease-modifying treatments that modify the immune system
and treatments that alleviate the symptoms of MS.
Disease-modifying treatments target the immune system. These are primarily used
to treat relapsing-remitting MS and include immunotherapies such as interferon beta1a and 1b, glatiramer acetate and fingolimod. These therapies are moderately
effective in reducing the number of attacks in patients with relapsing remitting MS. In
patients with CIS, treatment with interferons has been shown to reduce the
probability that patients will develop clinical MS.
Despite the availability of a number of disease-modifying treatments for relapsingremitting MS, there are no approved treatments for primary progressive MS, and
only one treatment for secondary progressive MS, mitoxantrone. Mitoxantrone has
been shown to slow disease progression, although further evidence is required to
confirm this.
Significant side effects have been reported in relation to disease-modifying
treatments, the most common being irritation around the site of injection. Other side
effects include flu-like symptoms, heart palpitations, anxiety, chest tightness,
hypertension and bradycardia, which have been reported across a range of diseasemodifying treatments.
In cases were disease-modifying treatments are not suitable other treatments are
available to reduce and alleviate symptoms of MS.
Physiotherapy can aid in reducing muscle stiffness and spasms, as well as
incontinence. Muscle spasms may also be reduced by baclofen and zanaflex, with
valium helpful in reducing spasms during sleep. Botulinum toxin can also be injected
locally to relax muscles.
Numerous medications are also available to treat a variety of other symptoms
including amantadine for fatigue, anticholinergic drugs to treat incontinence, and
anxiolytics and antidepressants to treat anxiety and depression.
Neuropsychological and counselling services can also aid in managing stress and
providing behavioural therapy to help manage symptoms.
Conclusion
MS is a chronic, disabling neurodegenerative disease. The majority of patients lead
normal lives for many years after their initial diagnosis, with appropriate treatment
and engagement with support services. However, the chronic nature of the disease
will eventually negatively impact the patients’ life. For this reason a far greater
understanding of the underlying biological processes is required to identify new
targets for disease-modifying treatments, and to measure the effect of novel
treatments on disease progression.